Results 51 to 60 of about 585,047 (286)
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
Personality growth as a socio-psychological problem is a multi-complex phenomenon that targets Self-identity, Self-actualization, and other areas. During the last decade scientists started studying other factors limiting the personality growth, such as ...
Masgutova S.K. +2 more
doaj +1 more source
Automated data reduction workflows for astronomy
Data from complex modern astronomical instruments often consist of a large number of different science and calibration files, and their reduction requires a variety of software tools.
Ballester, P. +7 more
core +1 more source
Parallel Facilitatory Reflex Pathways from the Foot and Hip to Flexors and Extensors in the Injured Human Spinal Cord [PDF]
Spinal integration of sensory signals associated with hip position, muscle loading, and cutaneous sensation of the foot contributes to movement regulation.
Kay, Elizabeth +2 more
core +2 more sources
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
Explicit CM-theory for level 2-structures on abelian surfaces [PDF]
For a complex abelian variety $A$ with endomorphism ring isomorphic to the maximal order in a quartic CM-field $K$, the Igusa invariants $j_1(A), j_2(A),j_3(A)$ generate an abelian extension of the reflex field of $K$.
Broker, Reinier +2 more
core +2 more sources
Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting +12 more
wiley +1 more source
Finger–thumb coordination is crucial to manual dexterity but remains incompletely understood, particularly following neurological injury such as stroke.
Christopher L. Jones, Derek G. Kamper
doaj +1 more source
What is the contribution of voluntary and reflex processes to sensorimotor control of balance?
The contribution to balance of spinal and transcortical processes including the long-latency reflex is well known. The control of balance has been modelled previously as a continuous, state feedback controller representing, long-latency reflexes. However,
Amel Cherif, Jacopo Zenzeri, Ian Loram
doaj +1 more source
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source

